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Pompe disease

Pompe disease

(Science: disease) Severe glycogen storage disease, also called glycogenosis II, is caused by deficiency of alpha-1,4-glucosidase, the lysosomal enzyme responsible for glycogen hydrolysis.

even though the nonlysosomal glycogenolytic system is normal, glycogen still accumulates in the lysosomes in almost all tissues, but produces especially severe effects in skeletal and cardiac muscle leading to early mortality.

specific enzyme assay in muscle cells, leukocytes or amniocytes confirms the diagnosis.


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Exp. antisense treatment for Pompe disease

... Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease. Clayton NP, Nelson CA, Weeden T, Taylor KM, Moreland RJ, Scheule RK, Phillips L, Leger ...

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by jonmoulton
Wed Oct 29, 2014 3:58 pm
 
Forum: Genetics
Topic: Exp. antisense treatment for Pompe disease
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